“Cells gone wild.”
It’s a phrase sometimes used to describe cancer: when cells become abnormal and start to multiply uncontrollably. This ‘misbehaviour’ is led by changes or mutations in our genes due to varying causes. Ageing, damage by exposure to harmful substances in our environment, or inherited as well as random changes.
And the longer these cells are left unchecked, the ‘wilder’ they grow. A once localised tumour – when it stays within its site of origin – now spreads or metastasises throughout the body. The scale of this invasion is what determines whether we survive: the more organs affected, the more complex the treatment, and the lower our chances.
Unfortunately, this is the reality many Malaysians face. The Malaysian National Cancer Registry Report revealed that between year 2017 and 2021, 65 percent of cancer cases were detected at the later stages – Stage 3 and 4[i]. Across the most common cancers among men, the percentage of late-stage diagnosis was 74.9 percent for colorectal cancer; 95.4 percent for lung cancer; 67.0 percent for prostate cancer; and 87.9 percent for liver cancer i.
As for common cancers among women, the percentage of late-stage diagnosis was 50.5 percent for breast cancer; 74.4 percent for colorectal cancer; and 94.3 percent for lung cancer i.
The resulting difference in survival rates is staggering. On average, a woman in Malaysia has an 84.5 percent chance of being alive for five years following diagnosis if detected in Stage 1 and 2, but a 41.5 percent if detected in Stage 3 and 4. For colorectal cancer, this five-year survival rate is 74.5 percent if detected in Stage 1 and 2, and 36.5 percent if detected in Stage 3 and 4[ii].
It isn’t just lives lost. Late detection results in more resources required, increased treatment costs, and further burdens the healthcare system.
As cancer rises worldwide, the emphasis in containing this deluge is on prevention, as lifestyle changes can reduce a person’s risk. However, not all types of cancer are preventable. The other key, then, is catching these cells before they misbehave.
Screening and early detection
The standard cancer screening in Malaysia – mainly through imaging tests – covers four types of cancer: breast, colorectal, cervical, and oral. Mammography and ultrasound for breasts; immunochemical faecal occult blood test (iFOBT) and colonoscopy for the colon and rectum; pap smear for the cervix; and visual examinations for the oral cavity.
“First, imaging tests rely on visible changes in the tissue, so there’s a risk of masses not having grown large enough to be seen,” says Dr Ankush Kalra, Medical Manager, Gene Solutions. “Also, many types of cancer do not have standard cancer screenings, such as include stomach, oesophagus, ovarian, head and neck, and pancreatic. These cancers can be aggressive; detecting them early is crucial.”
Another common test checks for tumour biomarkers – the presence of cancer in proteins, whether in the blood, urine, or tissues. However, Dr Ankush says, tumour biomarkers tests are used to track the effectiveness of cancer treatment or for recurrence. “This means they are more suitable for monitoring how the cancer has progressed, rather than screening or detecting.”
Genetic tests, on the other hand, determine whether someone with a family history of cancer has inherited the mutated genes. The most well-established example is the test for BRCA1 and BRCA2 – genes which upon mutation can increase a person’s risk of breast, ovarian, and other cancers. The limitation of this test is that it predicts risks, rather than detecting tumours.
Catching them on the spot
A new DNA-based test proposes a more advanced and wider search. SPOT-MAS: Screening for the Presence of Tumor by Methylation and Size detects whether any actual tumour DNA is circulating in our bodies.
“All cells shed fragments of DNA into the bloodstream,” says Dr Phan Nop So Phon, an emergency health doctor. “The key here is that DNA fragments shed by tumours have their own ‘signature’. Called circulating tumour DNA (ctDNA), they have special features that differ from DNA fragments from normal, non-tumour cells.”
Developed by biotechnology innovators Gene Solutions in 2018, the technology uses Artificial Intelligence to scan for and locate these ctDNA in a blood sample. Apart from detecting cancer early – possibly before tumour masses form and symptoms show – the advantage of using ctDNA is the ability to trace and predict where the tumour originated.
Another strength of SPOT-MAS is the various types of cancers it can screen, including those that do not yet have a standard routine screening method. “A single blood draw, which is minimally invasive, can screen for breast, lung, liver, colorectal, stomach, pancreas, oesophagus, ovary, endometrium, and head and neck cancer,” says Dr Phan.
Dr Ankush adds that in human trial studies involving over 10,000 participants of Asian heritage, the test has been shown to be highly accurate. “Compared with traditional tumour biomarkers, SPOT-MAS has a specificity of 99.8 percent. This indicates very low false positives, in which results show that cancer is present when that’s not the case.
“It also has a higher sensitivity, indicating very low false negatives – when results show that cancer is absent when it’s actually present. However, we caution that positive or negative results in SPOTMAS do not confirm either scenario. SPOTMAS acts as a complementary screening method alongside standard screening tools. They are not a replacement for current tests, and nor should they be used for diagnosis.”
Catching the unseen
A patient with a family history of cancer recounts their experience of undergoing the test. “My mother passed away from pancreatic cancer at age 56,” they said. “Although she showed no symptoms, the cancer was already Stage 4 upon diagnosis. There was little the doctors could do then – all we could do was minimise her pain and discomfort during her final months.”
Wanting to take control of their health, the patient went for a routine check-up along with the SPOT-MAS test: “When I heard about SPOT-MAS, I knew I had to do it.”
Despite showing no symptoms, their SPOT-MAS results showed circulating tumour DNA linked to pancreatic cancer.
“I was shocked – that result changed everything,” they said. “My doctor ordered an MRI immediately, and sure enough – there was a tumour; small, but there, at Stage 1. Since it was found early, it required just one surgery but no chemotherapy or other treatments.
“I’m now thankfully cancer-free, but sometimes I still can’t help but wonder – what if we had caught my mum’s cancer earlier?”
Who should consider SPOT-MAS testing?
“SPOT-MAS is particularly beneficial for individuals at a higher risk of cancer,” says Dr Phan. “As cancer risk increases with age, those aged 40 and above should consider it.”
He explains that the risks are also increased among heavy smokers and frequent alcohol consumers, making early detection crucial for this group. Additionally, individuals with a history of liver disease, such as hepatitis B or C, have higher chances of developing liver cancer and may benefit from SPOT-MAS.
Another factor is having a strong family history of cancer, he highlights. Those with first-degree relatives including parents and siblings who have been diagnosed with breast, colon, or pancreatic cancer have a higher likelihood of developing the disease themselves.
“For example, individuals with known genetic mutations, such as BRCA1, BRCA2, or Lynch syndrome, have an elevated cancer susceptibility and should consider early screening,” he adds.
SPOT-MAS offers two distinct types of cancer detection tests. The Multi-Cancer Early Detection (MCED) Blood Test is designed to detect 10 types of cancers: lung, liver-biliary tract, colorectal, stomach, oesophageal, pancreatic, ovarian, breast, endometrial, and certain types of head and neck cancers.
The Single Cancer Early Detection (SCED) Blood Test is tailored for specific cancers, such as SPOT-MAS CRC, which focuses on early detection of colon cancer, and SPOT-MAS LUNG, which is specifically designed for the lungs.
Envisioning a better future
The launch of SPOT-MAS in Malaysia in 2024 marked a significant step towards increasing access to early cancer detection. The goal is to ensure that more individuals, particularly those at a higher risk of cancer, can benefit from this groundbreaking test, says Mr Lim Chiun Khee, Country Director of Gene Solutions Genomics Malaysia Sdn Bhd.
Right now, Gene Solutions is collaborating with patient societies and key hospitals to expand the reach of SPOT-MAS, ensuring that early detection becomes a standard part of cancer care. By increasing awareness and accessibility, the initiative is aimed at improving survival rates and overall treatment outcomes.
“Our mission at Gene Solutions is to bring cutting-edge genetic testing to all individuals in need,” says Mr Lim. “Our strength is built upon five key pillars: scientific advancements in reproductive health and precision oncology, global-quality laboratories, validated clinical performance, AI-powered analytics, and unique post-test support in every country we operate.
“With over two million DNA tests conducted at 3,000 hospitals and clinics across the region, we believe that our convenient, accurate, and affordable cancer screening tests can help detect more cancers at earlier stages, thereby improving treatment outcomes.”
The SPOT-MAS test is available at selected health screening centres in private hospitals and GP clinics in the Klang Valley, including NCSM’s Cancer and Health Screening Clinic. For more information about SPOT-MAS, visit https://genesolutions.com/our-test/SPOT-mas
[i] National Cancer Registry, National Cancer Institute, Ministry of Health Malaysia (2022). Summary of Malaysian National Cancer Registry Report (2017-2021)
[ii] National Cancer Registry, National Cancer Institute, Ministry of Health Malaysia (2018). Malaysian Study on Cancer Survival (MySCan).
